What research is being done?

Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one of the National Institutes of Health (NIH), has primary responsibility for conducting and supporting research on brain and nervous system disorders, including myasthenia gravis.
Much has been learned about myasthenia gravis in recent years. Technological advances have led to more timely and accurate diagnosis, and new and enhanced therapies have improved management of the disorder. There is a greater understanding about the structure and function of the neuromuscular junction, the fundamental aspects of the thymus gland and of autoimmunity, and the disorder itself. Despite these advances, however, there is still much to learn. Researchers are seeking to learn what causes the autoimmune response in myasthenia gravis, and to better define the relationship between the thymus gland and myasthenia gravis.
Different drugs are being tested, either alone or in combination with existing drug therapies, to see if they are effective in treating myasthenia gravis. One study is examining the use of methotrexate therapy in individuals who develop symptoms and signs of the disease while on prednisone therapy. The drug suppresses blood cell activity that causes inflammation. Another study is investigating the use of rituximab, a monoclonal antibody against B cells which make antibodies, to see if it decreases certain antibodies that cause the immune system to attack the nervous system. Investigators are also determining if eculizumab is safe and effective in treating individuals with generalized myasthenia gravis who also receive various immunosuppressant drugs.
Another study seeks further understanding of the molecular basis of synaptic transmission in the nervous system. The objective of this study is to expand current knowledge of the function of receptors and to apply this knowledge to the treatment of myasthenia gravis.
Thymectomy is also being studied in myasthenia gravis patients who do not have thymoma to assess long-term benefit the surgical procedure may have over medical therapy alone.
One study involves blood sampling to see if the immune system is making antibodies against components of the nerves and muscle. Researchers also hope to learn if these antibodies contribute to the development or worsening of myasthenia gravis and other illnesses of the nervous system.
Investigators are also examining the safety and efficacy of autologous hematopoietic stem cell transplantation to treat refractory and severe myasthenia gravis. Participants in this study will receive several days of treatment using the immumosuppressant drugs cyclophosphamide and antithymocyte globulin before having some of their peripheral blood cells harvested and frozen. The blood cells will later be thawed and infused intravenously into the respective individuals, whose symptoms will be monitored for five years.

How is myasthenia gravis diagnosed?

Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or delayed (sometimes up to two years) in people who experience mild weakness or in those individuals whose weakness is restricted to only a few muscles.
The first steps of diagnosing myasthenia gravis include a review of the individual's medical history, and physical and neurological examinations. The physician looks for impairment of eye movements or muscle weakness without any changes in the individual's ability to feel things. If the doctor suspects myasthenia gravis, several tests are available to confirm the diagnosis.
A special blood test can detect the presence of immune molecules or acetylcholine receptor antibodies. Most patients with myasthenia gravis have abnormally elevated levels of these antibodies. Recently, a second antibody—called the anti-MuSK antibody—has been found in about 30 to 40 percent of individuals with myasthenia gravis who do not have acetylcholine receptor antibodies. This antibody can also be tested for in the blood. However, neither of these antibodies is present in some individuals with myasthenia gravis, most often in those with ocular myasthenia gravis.
The edrophonium test uses intravenous administration of edrophonium chloride to very briefly relieve weakness in people with myasthenia gravis. The drug blocks the degradation (breakdown) of acetylcholine and temporarily increases the levels of acetylcholine at the neuromuscular junction. Other methods to confirm the diagnosis include a version of nerve conduction study which tests for specific muscle "fatigue" by repetitive nerve stimulation. This test records weakening muscle responses when the nerves are repetitively stimulated by small pulses of electricity. Repetitive stimulation of a nerve during a nerve conduction study may demonstrate gradual decreases of the muscle action potential due to impaired nerve-to-muscle transmission.
Single fiber electromyography (EMG) can also detect impaired nerve-to-muscle transmission. EMG measures the electrical potential of muscle cells when single muscle fibers are stimulated by electrical impulses. Muscle fibers in myasthenia gravis, as well as other neuromuscular disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals.
Diagnostic imaging of the chest, using computed tomography (CT) or magnetic resonance imaging (MRI), may be used to identify the presence of a thymoma.
Pulmonary function testing, which measures breathing strength, helps to predict whether respiration may fail and lead to a myasthenic crisis.

Discovery of Physostigmine

HISTORICAL PERSPECTIVE

An English physiologist by the name of Thomas Willis is credited with clinically describing myasthenia gravis in 1672. Doctors Samuel Goldflam, Wilhelm Erb, and Friedrich Jolly from Germany are responsible for fully describing myasthenia gravis in 1890. In 1934, Dr. Mary Walker of London conducted a successful trial of physostigmine in a patient with myasthenia gravis. Dr. Walker discovered that a subcutaneous injection of physostigmine temporarily restored muscle function in a patient with myasthenia gravis. At that time, physostigmine was used as an antidote for curare poisoning.

Associated disorders

Disorders of the thymus: thymoma, hyperplasia
Other autoimmune disorders: Hashimoto’s thyroiditis, Graves’ disease, rheumatoid arthritis, lupus erythematosus, skin disorders, family history of autoimmune disorder
Disorders or circumstances that may exacerbate myasthenia gravis: hyperthyroidism or hypothyroidism, occult infection, medical treatment for other conditions
Disorders that may interfere with therapy: tuberculosis, diabetes, peptic ulcer, gastrointestinal bleeding, renal disease, hypertension, asthma, osteoporosis, obesity

Clinical features

The distribution of muscle weakness often has a characteristic pattern.
The cranial muscles, particularly the lids and extraocular muscles, are often involved early in the course of MG, and diplopia and ptosis are common initial complaints.
Facial weakness produces a “snarling” expression when the patient attempts to smile.
Weakness in chewing is most noticeable after prolonged effort, as in chewing meat.
Speech may have a nasal timbre caused by weakness of the palate or a dysarthric “mushy” quality due to tongue weakness.
Difficulty in swallowing may occur as a result of weakness of the palate, tongue, or pharynx, giving rise to nasal regurgitation or aspiration of liquids or food.
In approximately 85% of patients, the weakness becomes generalized, affecting the limb muscles as well.
If weakness remains restricted to the extra ocular muscles for 3 years, it is likely that it will not become generalized, and these patients are said to have ocular MG.
The limb weakness in MG is often proximal and may be asymmetric.
Despite the muscle weakness, deep tendon reflexes are preserved.
If weakness of respiration becomes so severe as to require respiratory assistance, the patient is said to be in crisis.

Autoimmune disorders impact primarily women

August 23, 2012 8:00 am  •  By Jane Ammeson

The term autoimmune disorder is, in ways, a giant grab bag of diseases, some rare and often unheard-of to all but those who suffer from them. After all, names like Hashimoto’s thyroiditis, Myasthenia gravis and Sjögren’s syndrome aren't everyday terms. Others—such as Type 1 diabetes, multiple sclerosis, rheumatoid arthritis and lupus—are much better known and much more common. Though there are more than 80 autoimmune disorders, individually many of them occur infrequently. But grouped together, autoimmune diseases—caused when our body mistakes our own cells for foreign invaders such as viruses, germs and antigens and goes on the attack—impact 23.5 million Americans.
They are also the fourth leading cause of disability among women as well as one of the leading causes of death, particularly among young and middle-aged women.
“What many people don’t know is that typically 80 to 90 percent of people with autoimmune diseases like lupus are women,” says Jan Ferris, chief executive officer of the Lupus Foundation of America, Indiana Chapter. “And typically the diagnosis happens most often between the ages of 15 and 44 years old."

MG

PLASMAPHERESIS

Myasthenia gravis (MG) is an autoimmune disease. Under normal circumstances, the body’s immune system protects against infection from invading bacteria and viruses. In MG, the immune system produces antibodies that become overactive and cause undesirable effects. These antibodies, called acetylcholine receptor antibodies (AChR), destroy or block certain receptor sites, resulting in muscle weakness. During plasmapheresis (also called  plasma exchange), these abnormal antibodies are removed from the bloodstream.



Plasmapheresis is a procedure in which blood is separated into cells and plasma (liquid). The plasma is removed and replaced with fresh frozen plasma, a blood product called albumin
and/or a plasma substitute. The procedure is often referred to as plasma exchange.

Genes related to myasthenia gravis

Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder.
Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. In myasthenia gravis, the immune system disrupts the transmission of nerve impulses to muscles by producing a protein called an antibody that attaches (binds) to proteins important for nerve signal transmission. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in myasthenia gravis attacks a normal human protein. In most affected individuals, the antibody targets a protein called acetylcholine receptor (AChR); in others, the antibodies attack a related protein called muscle-specific kinase (MuSK). In both cases, the abnormal antibodies lead to a reduction of available AChR.
The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement. In myasthenia gravis, because of the abnormal immune response, less AChR is present, which reduces signaling between nerve and muscle cells. These signaling abnormalities lead to decreased muscle movement and the muscle weakness characteristic of this condition.
It is unclear why the immune system malfunctions in people with myasthenia gravis. About 75 percent of affected individuals have an abnormally large and overactive thymus, which is a gland located behind the breastbone that plays an important role in the immune system. The thymus sometimes develops tumors (thymomas) that are usually noncancerous (benign). However, the relationship between the thymus problems and the specific immune system malfunction that occurs in myasthenia gravis is not well understood.
People with myasthenia gravis are at increased risk of developing other autoimmune disorders, including autoimmune thyroid disease and systemic lupus erythematosus. Gene variations that affect immune system function likely affect the risk of developing myasthenia gravis and other autoimmune disorders.
Some families are affected by an inherited disorder with symptoms similar to those of myasthenia gravis, but in which antibodies to the AChR or MuSK proteins are not present. This condition, which is not an autoimmune disorder, is called congenital myasthenic syndrome

Can Myasthenia gravis cause a sudden collapse?

Posted on July 3, 2012

In response. YES !!! YES !!! YES !!!
Sudden collapse is the most pronounced symptom of Myasthenia gravis. A severe case of Myasthenia gravis is marked by a sudden collapse due to extremely sudden weakness of all the muscles in the body, from the eyelids to the chest, to the arms, to the body, to the legs. Such extreme sudden weakness will cause total muscular collapse every 20 minutes.
It takes about 8 to 10 minutes to drive from San Bruno, California, to the San Francisco International Airport. Someone with Myasthenia gravis has enough strength only to drive to the airport but will not be able to drive back to San Bruno. One has to rest in the car on the side of the road for at least 15 minutes for the muscle strength to recover.
Walking in a shopping mall is very frightening for someone with Myasthenia gravis because every 15 to 20 minutes the person will feel that he or she is going to collapse completely onto the floor. The person cannot even shuffle his or her way along. The distance between the seats in a shapping mall are too far apart for anyone with Myasthenia gravis to even reach by walking.

Prostigmin Fights Myasthenia Gravis

Treatment for  myasthenia gravis is available with prescription drug Prostigmin (Neostigmin). It works by helping to improve the transmission of your nerve impulses, as they relate to your muscles. Prostigmin (Neostigmin) is an anti-cholinesterase type of medicine which can help to make your muscles work more effectively. 

Myasthenia Gravis Awareness month.

 JUNE IS MYASTHENIA AWARENESS MONTH

 Myasthenia Gravis (MG) is a Greek and Latin combination meaning “grave muscle weakness”. I would not be surprised that you’ve not heard of this disease. This autoimmune disease affects 1 in 100,000 individuals. It is considered a form of Muscular Dystrophy. This disease disrupts the lives of our  families and friends, because we are no longer able to do the things we’ve done in the past, but now must depend on them to step in and do them for us. Over exertion, stress and heat are main contributors to the worsening of our symptoms. While friends and family enjoy parties out in the beautiful sun and surf, we must be content with air conditioning and an easy chair. It affects each of us individually. MG was killing 65 percent of the people who contracted it prior to the 1930’s because there was no effective treatment. Mestinon was discovered and the death rate dropped dramatically. It now stands at 5 percent because of the advances in medications. As it stands today, it is not curable. There are some who go into periods of remission. Many of those are the ones who have had thymus glands removed, but even this does not guarantee a remission. Where diseases like cancer and MS have hundreds of case studies in process at any given time, MG currently has less than 20. It seems the reasoning behind this is that MG is controllable with medication and is no longer as life threatening as it once 

was. The fact remains that it is incurable and we would much rather live a normal life than the new “normal” we do now.

Myasthenia Patients require Med-Alert Bracelets!

To Purchase a bracelet visithttp://www.medicalert.ie/

Who needs MedicAlert

You need MedicAlert medical ID if:-

• You have any type of hidden medical condition
• You have an allergy
• You have had any type of implant
• You take regular medication
• You would like your blood group to be recorded
• You have a living will or wish to be an organ donor
• You simply want someone else to know if you have been involved in an emergency

And this is just the beginning. It is important to understand that everybody, irrespective of whether they are 100% fit and healthy, could justify becoming a member of MedicAlert®. We do not simply provide medical id, but a complete life-saving system. In an emergency it may be just as vital to know who your next of kin are as it is to know your medical details.

JUNE IS MYASTHENIA AWARENESS MONTH

 MYASTHENIA EDUCATION

Recognizing Myasthenia Gravis

June 5, 2012

By Charles Lieberman

The neuromuscular disease myasthenia gravis is often difficult to diagnose. It can take up to two years after its effects start to appear before doctors can get a handle on what is going on.
Myasthenia can affect any muscle in the body that you can voluntarily control, but the most common symptoms are:

• Weakness in the muscles of the chest wall, which can make breathing difficult
• Soft or nasal speech, or having to struggle, physically, to speak
• Unexplained hoarseness or changes in the voice
• Droopy eyelids, double vision, or problems maintaining a steady gaze
• Weakness or paralysis of the muscles in the face, and a markedly curtailed range of facial expressions
• Difficulty chewing or swallowing, and frequent drooling, gagging or choking
• Unexplained fatigue and a feeling of having to work extra hard to move
• Trouble lifting your head and facing forward rather than down
• Sudden inability to lift things, stand up from a chair, or climb stairs

Symptoms of myasthenia gravis often improve after a rest, but they tend to get steadily worse over time. The difficult breathing can be life threatening.
If you develop double vision, you have trouble chewing or swallowing, you find your eyelid drooping, or you experience intermittent muscle weakness, contact a doctor. These are the most obvious signs of myasthenia gravis, and a doctor can help you create a treatment strategy.

JUNE IS MYASTHENIA AWARENESS MONTH

Myasthenia Education

People going through a crisis can collapse at home or in public, and are often incorrectly assumed to be intoxicated – even by paramedics.  The more people that know about this disease, the less likely someone is to die while someone misunderstands what is happening to them. While most of us do get warning signs that our condition is heading downhill, it is also entirely possible to be able to function near-normal one minute, and literally collapse the next.

June is Myasthenia Gravis Month

MYASTHENIA EDUCATION

  Myasthenia Gravis can affect any age, gender or race. But, most often, it is women younger than 40 and men older than 50. Having said that, even newborns and young children can get it.

To learn more or to donate, contact the Myasthenia Gravis Association of America.  http://myasthenia.org/

June is Myasthenia Gravis Month

MYASTHENIA  EDUCATION

Myasthenia Gravis can be fatal if a person is in crisis and someone does not recognize it soon enough. In that case, a person might be unable to breathe, or may choke for lack of being able to swallow, for example. But it in no way causes the fatalities that it once did. Today, with the combined knowledge and awareness of the disorder and the success of intervention and various treatments, it is much more manageable and controllable. Most patients can lead nearly full and productive lives.

June is Myasthenia Gravis Month

MYASTHENIA EDUCATION

  There have been truly great advances in treatment. In the early days, people died from the disease because when the lungs would become involved, the patient would go into crisis. Since it’s considered an autoimmune disease, surgery is sometimes done today to remove the thymus gland. The thymus, located behind the breastbone, produces antibodies, but in this case it has—in layman’s terms—run amuck. One theory is that the thymus may produce receptor antibodies that can attack a person’s own body and actually lead to myasthenia gravis.

Likewise, an exchange of the body’s plasma can reduce the number of wayward antibodies as well as other measures including the use of medications which are being used today to suppress this autoimmune reaction. The specific cause of MG remains unknown, but our research continues.

June: Myasthenia Gravis Awareness Month

The month of June promises many things to us. It promises beautiful flowers, warmer weather and a big, blue sky with more hours of sunlight each day.
June is also Myasthenia Gravis Awareness Month. Like any disease, myasthenia gravis takes away from humanity. Those who suffer from myasthenia gravis themselves or know of someone suffering from this disease will attest to its symptoms of weakness and pain.

June is Myasthenia Gravis Month

 MYASTHENIA EDUCATION

There was a time when MG was often misdiagnosed in its early stages because there could be other reasons for most of those symptoms  mentioned.  Myasthenia Gravis remains  a problem still today?

It  is  referred to as the ‘snowflake disease,’ because in its early stages, it manifests itself differently in different individuals, making it seem that there are no two patients and symptoms that are exactly alike. MG is rare enough that many practicing physicians never see a case in their entire careers. In the United States, MG will develop in only about 20 to 30 patients out of 100,000. Because of that rarity, it is easily mistaken for other neuromuscular disorders or even as stress and general tiredness. The first thing that most of our patients notice is the droopy eyelid, so it’s often eye doctors who send their patients with that symptom to us.